Canonical Allele Identifier: CA346668255

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145249A>C (hg19) ; chr2:g.43918110A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918110A>C , CM000664.2:g.43918110A>C	GRCh38
NC_000002.11:g.44145249A>C , CM000664.1:g.44145249A>C	GRCh37
NC_000002.10:g.43998753A>C	NCBI36
NG_008247.1:g.82896T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.615T>G
ENST00000682295.1:c.303+146T>G	ENSP00000507499.1:n.303+146T>G
ENST00000682303.1:c.*2849T>G	ENSP00000508325.1:n.*2849T>G
ENST00000682308.1:c.3063T>G	ENSP00000507056.1:p.His1021Gln
ENST00000682480.1:c.3081T>G	ENSP00000508344.1:p.His1027Gln
ENST00000682546.1:c.3060T>G	ENSP00000508188.1:p.His1020Gln
ENST00000682585.1:c.3063T>G	ENSP00000506885.1:p.His1021Gln
ENST00000682595.1:n.3647T>G
ENST00000682607.1:c.1481T>G
ENST00000682779.1:c.3054T>G	ENSP00000507947.1:p.His1018Gln
ENST00000682845.1:n.2165T>G
ENST00000682885.1:c.3018T>G	ENSP00000508036.1:p.His1006Gln
ENST00000682933.1:n.3137T>G
ENST00000683072.1:n.3647T>G
ENST00000683080.1:n.682T>G
ENST00000683125.1:c.3171T>G	ENSP00000507939.1:p.His1057Gln
ENST00000683213.1:c.3066T>G	ENSP00000507751.1:p.His1022Gln
ENST00000683220.1:c.3093T>G	ENSP00000507151.1:p.His1031Gln
ENST00000683329.1:n.3866T>G
ENST00000683346.1:c.*2938T>G	ENSP00000507458.1:n.*2938T>G
ENST00000683409.1:n.1670T>G
ENST00000683459.1:n.3650T>G
ENST00000683590.1:c.2897-5552T>G	ENSP00000506820.1:n.2897-5552T>G
ENST00000683623.1:c.2970T>G	ENSP00000507702.1:p.His990Gln
ENST00000683645.1:n.3614T>G
ENST00000683796.1:c.*2935T>G	ENSP00000508221.1:n.*2935T>G
ENST00000683802.1:n.5988T>G
ENST00000683833.1:c.3054T>G	ENSP00000506852.1:p.His1018Gln
ENST00000683994.1:c.3063T>G	ENSP00000507181.1:p.His1021Gln
ENST00000684290.1:c.*599T>G	ENSP00000507243.1:n.*599T>G
ENST00000684306.1:c.*2976T>G	ENSP00000508384.1:n.*2976T>G
ENST00000684341.1:n.3083T>G
ENST00000684383.1:c.*2701T>G	ENSP00000506863.1:n.*2701T>G
ENST00000684619.1:c.*2935T>G	ENSP00000508088.1:n.*2935T>G
ENST00000684705.1:n.184T>G
ENST00000684743.1:n.4094T>G
ENST00000260665.12:c.3063T>G MANE Select	ENSP00000260665.7:p.His1021Gln
ENST00000260665.11:c.3063T>G	ENSP00000260665.7:p.His1021Gln
NM_133259.3:c.3063T>G	NP_573566.2:p.His1021Gln
XM_006711915.2:c.2985T>G	XP_006711978.1:p.His995Gln
XM_006711916.2:c.3063T>G	XP_006711979.1:p.His1021Gln
XM_011532473.1:c.3063T>G	XP_011530775.1:p.His1021Gln
XM_011532474.1:c.3063T>G	XP_011530776.1:p.His1021Gln
XM_006711916.3:c.3063T>G	XP_006711979.1:p.His1021Gln
XM_017003117.1:c.2985T>G	XP_016858606.1:p.His995Gln
XR_002958896.1:n.3105T>G
NM_133259.4:c.3063T>G MANE Select	NP_573566.2:p.His1021Gln